| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... |
OMIM:301033 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... |
OMIM:615703 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia |
ORPHA:329249 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Ma... |
ORPHA:324575 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
| Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... |
ORPHA:399 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation,... |
ORPHA:276580 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait disturbance, Pares... |
ORPHA:2398 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... |
ORPHA:314811 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Type I diabetes me... |
ORPHA:276575 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, H... |
OMIM:232700 |
| Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal... |
ORPHA:79237 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
| Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
| Hypoglycemia, Leucine-Induced |
|
Spasticity, Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Diarrhea, Hyperinsulinemia, Vomiting, Failure to thrive |
OMIM:606528 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Poor motor coordination, Reduced intr... |
ORPHA:363400 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... |
ORPHA:528 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Classic Galactosemia |
|
Lethargy, Male infertility, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Secondary am... |
ORPHA:79239 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... |
OMIM:606777 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... |
OMIM:300148 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity, Tall stature |
OMIM:618406 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Lethargy, Premature adrenarche, Hypothalamic luteinizing hormone-... |
ORPHA:398079 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
| X-Linked Acrogigantism |
|
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... |
ORPHA:300373 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... |
ORPHA:35878 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce... |
OMIM:610717 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Diarrhea,... |
ORPHA:263455 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicul... |
OMIM:614962 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
| Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity |
OMIM:617065 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Flexion contracture, Increased body weight, Compulsive behaviors,... |
ORPHA:398069 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea... |
ORPHA:2849 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Distal sensory impairment, Lower-limb joint contracture, Difficulty walking, Lethargy |
OMIM:613710 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Parkinsonism, Rigidity, Babinsk... |
ORPHA:101150 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... |
ORPHA:216873 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Diarrhea, Cirr... |
ORPHA:75234 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic... |
OMIM:616033 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy |
OMIM:618224 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... |
ORPHA:791 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia |
OMIM:617018 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe fail... |
OMIM:246200 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance, Anorexia |
ORPHA:79283 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:446 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Dystonia, Ataxia, Hypoglycemia |
OMIM:246900 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Hypertonia, Dystonia, Lethargy, Failure to thrive |
ORPHA:26792 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:622 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He... |
OMIM:248370 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, ... |
OMIM:614480 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypogonadism, Obesity |
ORPHA:85274 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Flexion contracture, Babinski sign, Spasticity |
OMIM:611105 |
| Wolfram-Like Syndrome |
|
Diabetes mellitus, Depression, Progressive cerebellar ataxia, Glucose intolerance, Primary gonada... |
ORPHA:411590 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... |
OMIM:600955 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia |
OMIM:222100 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:79083 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Patent ductus arteriosus, A... |
OMIM:617021 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment, Hyperlysinemia, Anemia |
OMIM:238700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Hypoa... |
ORPHA:79319 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... |
OMIM:616329 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Obesity, Dystonia |
OMIM:616756 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy, Decreased circ... |
OMIM:618573 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Irritability, Hypercalcemia, Anemia |
ORPHA:69077 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Tremor, Cryptorchidism, Arterial stenosis, Cerebral artery ... |
ORPHA:1192 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia, Failure to thrive |
OMIM:615863 |
| 6Q16 Microdeletion Syndrome |
|
Broad-based gait, Poor coordination, Obesity, Abnormal temper tantrums, Polyphagia |
ORPHA:171829 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Patent ductus arteriosus, Hypercalcemia, Anemia |
ORPHA:2123 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hyp... |
ORPHA:2348 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Polycythemia Vera |
|
Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell m... |
OMIM:263300 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Lower limb spasticity, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... |
ORPHA:401901 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Decreased circulating progesterone, Unsteady gait, Secondary ame... |
OMIM:603896 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Inability to walk, Cryptorchidism, Flexion contracture... |
OMIM:615547 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
| Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... |
OMIM:603233 |
| Hypophosphatasia |
|
Irritability, Hypercalcemia, Anemia |
ORPHA:436 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Myoclonus, Lethargy |
OMIM:605899 |
| 14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Polyphagia, Obesity, Slurred speech, Attention deficit hyperactivity disorde... |
ORPHA:261229 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hy... |
OMIM:233910 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Premature ovarian insufficiency, Hypoglycemia... |
ORPHA:199299 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... |
ORPHA:98793 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Neonatal hyperbil... |
ORPHA:90674 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Dysmenorrhea, Increased intraabdominal fat, Hepatic stea... |
ORPHA:280365 |
| Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... |
ORPHA:98754 |
| Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Bil... |
ORPHA:69663 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... |
ORPHA:177904 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... |
ORPHA:177901 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... |
ORPHA:264580 |
| Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... |
ORPHA:633 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Bradyphrenia, Diabetes mellitus, Transient ischemic attack, Confusion, Cerebral hemorrhage, Arter... |
ORPHA:136 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
OMIM:615381 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| 48,Xxyy Syndrome |
|
Inguinal hernia, Ataxia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Tremo... |
ORPHA:10 |
| Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Decerebrate rigidity, Lethargy, Spas... |
ORPHA:314911 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertr... |
OMIM:608594 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... |
ORPHA:90117 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... |
OMIM:269700 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, ... |
OMIM:607483 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypergonadotrop... |
OMIM:203800 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Diabetes mellitus, Paresthesia, Anorexia |
ORPHA:49827 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple... |
OMIM:238970 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Tetraplegia, Hypertonia, Lethargy, Failure to thrive |
OMIM:274270 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Impaired distal vibration sensation, Impaired vibration sensation ... |
OMIM:604360 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Di... |
ORPHA:71212 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism,... |
ORPHA:95496 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Intracranial hemorrhage, Irritability, An... |
OMIM:241500 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:26 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
| Frontotemporal Dementia |
|
Diminished motivation, Parkinsonism, Disinhibition, Inappropriate laughter, Apathy, Polyphagia |
OMIM:600274 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Lethargy, Failure to thrive |
OMIM:250620 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
| Pick Disease Of Brain |
|
Diminished motivation, Polyphagia, Disinhibition, Inappropriate laughter, Apathy, Abnormal repeti... |
OMIM:172700 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Impotence, Hypogonadism, Lethargy |
ORPHA:79230 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... |
OMIM:610628 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Hypergonadotropic hypogonadism, Tremor, Hypoesthesia, Obesity, Prim... |
OMIM:619737 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:412 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepa... |
ORPHA:369 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... |
ORPHA:453533 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... |
OMIM:615962 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fibrosis, Vomiting, Hepat... |
OMIM:278000 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h... |
ORPHA:79240 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggressive behavior, Trem... |
ORPHA:72 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Nausea |
ORPHA:90065 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Diarrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Vomiting, Hype... |
OMIM:602579 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Sp... |
OMIM:615768 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Ataxia, Hypoglycemia, Lethargy, Spasticity, Failure to thrive |
ORPHA:2394 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Decreased fertility, Obesity, Hypogonadism, ... |
ORPHA:2234 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... |
OMIM:614736 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-injurious behavior, P... |
ORPHA:228402 |
| Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased... |
OMIM:133100 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Myoclonus, Dysphagia |
ORPHA:1935 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy |
OMIM:312170 |
| Mehmo Syndrome |
|
Diabetes mellitus, Cryptorchidism, Obesity, Hypertonia, Agitation |
ORPHA:85282 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Multiple lipomas, Gait ... |
ORPHA:765 |
| X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Obesity, Dysm... |
ORPHA:93952 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to... |
OMIM:606407 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... |
ORPHA:247585 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Ataxia, Obesity, Cryptorchidism |
ORPHA:2377 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint con... |
OMIM:175700 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:189427 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Decreased female libido, Hypoglycemia, Hypercalcemia, Anorexia, ... |
ORPHA:95409 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ataxia, Babinski sign, Dysphagia, Dystonia, Lethargy, Failure to thrive |
OMIM:618226 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentra... |
OMIM:613327 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Man1B1-Cdg |
|
Truncal obesity, Broad-based gait, Polyphagia, Resting tremor |
ORPHA:397941 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... |
OMIM:613670 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Adrenal insufficiency, Anorexia, Hypoglycemia |
OMIM:619386 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Puberty and gonadal disorders, Unsteady gait, Obesi... |
ORPHA:464282 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:261750 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... |
OMIM:263400 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... |
OMIM:617253 |
| Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone... |
OMIM:176270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hypoglycemia |
OMIM:619048 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... |
OMIM:617225 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal ... |
OMIM:618124 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Hypoglycemia, Gait imbalance, Ankle flexion contracture |
OMIM:618120 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
| Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Narcolepsy Type 1 |
|
Cataplexy, Slurred speech, Obesity |
ORPHA:2073 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:614741 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hepatocellular... |
ORPHA:2088 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
| Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia |
OMIM:128235 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Postural tremor, Parkinsonism, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight, Constipation, Hype... |
OMIM:182290 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit ... |
ORPHA:476126 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Impaired temperature se... |
ORPHA:739 |
| Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
| Central Diabetes Insipidus |
|
Anorexia, Weight loss, Depression, Lethargy, Polydipsia, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Progressive psychomotor deterioration, Increased blood urea nitrogen, Episodic hem... |
ORPHA:251004 |
| Central Neurocytoma |
|
Pain insensitivity, Ataxia, Babinski sign, Depression, Paresthesia, Lethargy |
ORPHA:73256 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity |
ORPHA:2233 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Premature ovarian insufficiency, Hypoglycemia, Primary testicula... |
ORPHA:85138 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Spasticity, Ataxia, Myoclonus |
OMIM:618225 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Hypercalcemia |
OMIM:143880 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hepat... |
OMIM:619013 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Tall stature |
OMIM:613163 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308700 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Cryptorchidism |
OMIM:618958 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, ... |
ORPHA:71517 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Riboflavin Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:615026 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
| Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... |
OMIM:613027 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight |
ORPHA:231140 |
| Semilobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Diabetes insipidus, Decreased response to growth ... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Diabetes insipidus, Decreased response to growth ... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Diabetes insipidus, Decreased response to growth ... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Diabetes insipidus, Decreased response to growth ... |
ORPHA:93924 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Increased mean corpuscu... |
OMIM:612561 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Hypoglycemia, Cachexia, Distal arthrogryposis, Lethargy |
ORPHA:42 |
| Cyclic Vomiting Syndrome |
|
Lethargy, Attention deficit hyperactivity disorder, Ataxia, Anorexia |
OMIM:500007 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive, Ataxia, Abnormal pyramidal sign |
OMIM:618228 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia |
ORPHA:231147 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Hypop... |
OMIM:618841 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Hypoglycemia |
OMIM:232400 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Choreoathetosis, Dystonia, Lethargy, Failure to thrive |
ORPHA:79312 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... |
OMIM:615362 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Cryptorchidism, Insulin resistance,... |
OMIM:616541 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Diminished motivation, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, ... |
OMIM:615157 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo... |
ORPHA:73272 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Apathy, Dystonia, Par... |
ORPHA:240085 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dys... |
ORPHA:521406 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism, Failure to thrive, Hypoglycemia |
ORPHA:163693 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:615982 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
| Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp... |
ORPHA:79445 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Maple Syrup Urine Disease |
|
Lethargy, Hypertonia, Ataxia, Hypoglycemia |
OMIM:248600 |
| Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Ankle clonus, Lethargy, Spasticity, Failure to thrive |
ORPHA:247525 |
| Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Insulin-resistant diabetes mellitus, Chorea, Diffi... |
ORPHA:401768 |
| Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... |
OMIM:103580 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... |
ORPHA:444490 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... |
OMIM:616113 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... |
ORPHA:89938 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia |
OMIM:239200 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Gait ataxia, Glucose intolerance, Hypertonia, Lethargy, Hypothyroidism, Hyperthyroidism, ... |
ORPHA:254892 |
| Whipple Disease |
|
Ataxia, Cachexia, Anorexia, Insulin resistance, Abnormal pyramidal sign, Depression, Myoclonus, E... |
ORPHA:3452 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Non-Functioning Paraganglioma |
|
Tremor, Hypercalcemia, Cerebral hemorrhage |
ORPHA:94080 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:610006 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia |
ORPHA:67048 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Appendicular spasticity, Lower limb spasticity, Elbow contracture, Upper limb spasticity, Letharg... |
OMIM:611523 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... |
ORPHA:769 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Im... |
OMIM:300623 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Tremor, Thyrotoxicosis with diffuse goiter, Increas... |
ORPHA:525731 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia |
OMIM:602522 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Dystonia, Lethargy |
ORPHA:289916 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Depression, Apathy, Dystonia, Inertia, Action tremor |
OMIM:606438 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Diarrhea, Elevated circulating creatinine concentration, Hyperi... |
ORPHA:230 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat... |
ORPHA:3191 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... |
ORPHA:454887 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... |
OMIM:219090 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
| Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrenal insuff... |
OMIM:617575 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Stroke, Hypocalcemia |
ORPHA:557003 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Intermittent diarrhea, Hypercholeste... |
ORPHA:263501 |
| Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea |
OMIM:602390 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Failure to thrive |
OMIM:236270 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Abnormal testis morphology, Tremor, Gait disturbance, Type II diabetes... |
ORPHA:100 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Cryptorch... |
OMIM:617052 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, ... |
ORPHA:3095 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Constipation, Hypothyroidism |
OMIM:275120 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy |
OMIM:617900 |
| Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... |
ORPHA:248111 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Cryptorchidism, Hypercalcemia |
OMIM:614732 |
| Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Vomiting, I... |
OMIM:238600 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, ... |
OMIM:617145 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
| Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Hyperkalemia, De... |
ORPHA:90794 |
| Isolated Atp Synthase Deficiency |
|
Ataxia, Spastic paraplegia, Tetraplegia, Hypogonadism, Dystonia, Lethargy, Hypothyroidism |
ORPHA:254913 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... |
OMIM:619028 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Autoimmune Hypoparathyroidism |
|
Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryng... |
ORPHA:36913 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... |
OMIM:616269 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Spastic tetraparesis, Babinski sign, Gait disturbance, Loss of ambulation, Lethargy, Spas... |
OMIM:615838 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity |
OMIM:615993 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... |
ORPHA:98764 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:266150 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Ataxia, Obesity, Dystonia, Oculomotor apraxia |
ORPHA:459033 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... |
OMIM:608643 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, S... |
OMIM:131100 |
| 4H Leukodystrophy |
|
Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogon... |
ORPHA:289494 |
| Placental Insufficiency |
|
Hypoxemia, Insulin resistance, Cerebral palsy, Small for gestational age |
ORPHA:439167 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity |
OMIM:300983 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Bradykinesia, Ankle clonus, Hy... |
OMIM:617435 |
| Susac Syndrome |
|
Somatic sensory dysfunction, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction |
ORPHA:838 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Flexion contracture, Distal sensory impairment, Steppage gait, Hypertonia,... |
OMIM:609260 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Hypogonadism, Lethargy, Decreased serum testosterone concentration, Failure to th... |
OMIM:201100 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy |
OMIM:613002 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Hy... |
OMIM:603471 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion... |
OMIM:214150 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive, Dysphagia |
OMIM:613561 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... |
ORPHA:681 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Paraplegia, Agitation, Lethargy, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:927 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Elbow flexion... |
OMIM:619470 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:617916 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Luscan-Lumish Syndrome |
|
Aggressive behavior, Slurred speech, Obesity, Irregular menstruation, Overgrowth, Polyphagia |
OMIM:616831 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... |
OMIM:615830 |
| Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia, Cognitive impairment |
ORPHA:172 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po... |
ORPHA:100924 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bra... |
OMIM:261640 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Rett Syndrome |
|
Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty ... |
ORPHA:778 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... |
ORPHA:478 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Gastroesophageal... |
ORPHA:819 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggr... |
ORPHA:293987 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tr... |
OMIM:614307 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Depression, Truncal... |
OMIM:300957 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Lethargy, Recurrent hypoglycemia, Failure to thrive |
OMIM:212140 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Babinski sign, Flexion contracture, Tetraparesis, Lethargy, Spasticity |
OMIM:617105 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... |
OMIM:261680 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
| Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, ... |
OMIM:210000 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... |
ORPHA:227510 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Aggressive behavior |
OMIM:237310 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Fo... |
ORPHA:254881 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Typhoid |
|
Tremor, Lethargy, Hypertonia, Ataxia |
ORPHA:99745 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Premature ovarian insufficiency, Abno... |
ORPHA:79474 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Eyelid myoclonus, Myoc... |
ORPHA:2590 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Abnorm... |
ORPHA:391673 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Erythroid hypoplasia, Retic... |
ORPHA:124 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... |
ORPHA:90791 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity, Delayed puberty |
OMIM:301900 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Choreoathetosis, Tetraparesis, Lethargy |
ORPHA:27 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive, Hypoglycemia, Opisthotonus |
OMIM:210200 |
| Baralle-Macken Syndrome |
|
Inability to walk, Spasticity, Obesity, Dystonia |
OMIM:619255 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Dista... |
OMIM:302800 |
| Propionic Acidemia |
|
Hypoglycemia, Dystonia, Lethargy, Failure to thrive, Limb hypertonia |
OMIM:606054 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... |
ORPHA:199296 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... |
OMIM:619738 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Increased hepatocellular lipid droplets, Diarrhea, Vomiting, Steatorrhea, H... |
ORPHA:71 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Poor coordination,... |
OMIM:209900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxia, Abdominal obesity, Hypog... |
OMIM:300354 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Splenomegaly, Cryptorchidism, Lacunar stroke, Hypocalcemia |
OMIM:618440 |
| Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... |
ORPHA:391417 |
| Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Hypoxemia, Addictive alcohol use, Increased circulating procalcitonin concentr... |
ORPHA:36238 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Obesity, Dystonia, Lipoma |
ORPHA:480907 |
| Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Emotional labi... |
ORPHA:98818 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Bipolar affective disorder, Obesity, Depression |
ORPHA:276630 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia |
ORPHA:48431 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
| Dihydropyrimidinase Deficiency |
|
Lethargy, Abnormal pyramidal sign, Extrapyramidal dyskinesia |
OMIM:222748 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Inflammation of the large intestine, Hepatic steatosis, Hypothyroidism, He... |
ORPHA:79259 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| 16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia, Dysphagia |
ORPHA:261250 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia |
OMIM:615453 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia |
OMIM:617950 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
| Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... |
ORPHA:440713 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, Delayed menarche |
ORPHA:330050 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Decreased testicular size, Unsteady gait, Dysmetria, Hand tr... |
ORPHA:3041 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... |
ORPHA:261529 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Hypogonadotropic hypogonadism, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetri... |
OMIM:607694 |
| Rafiq Syndrome |
|
Ataxia, Aggressive behavior, Flexion contracture, Obesity, Truncal obesity |
OMIM:614202 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... |
OMIM:619662 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Depression, Iron deficiency anemia, Infertility, Hypocalcemia, Type I ... |
OMIM:212750 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity |
OMIM:612463 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy, Hypoglycemia, Hemiplegia/hemiparesis |
ORPHA:156 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Hypoglycemia |
ORPHA:289504 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Att... |
OMIM:261600 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age |
OMIM:610498 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Spasticity, Ataxia, Tremor |
OMIM:278780 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Glycosuria |
OMIM:616026 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... |
OMIM:127550 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Patent ductus arteriosus, Increased mean corpuscular volume, Neutropenia, Tetr... |
OMIM:612562 |
| Monosomy 13Q34 |
|
Insulin resistance, Metrorrhagia, Hypercalcemia |
ORPHA:96168 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Decreased response to growth hormone stimulation test, Overweight, Tre... |
ORPHA:457240 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... |
OMIM:307030 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Ataxia, Anorexia, Weight loss |
ORPHA:79242 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
| 11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Hypoketotic hypoglycemia |
OMIM:600649 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... |
ORPHA:508 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity |
OMIM:213200 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Diarrhea, Hyperammonemia, Weight loss, Vomiting, Hyperuricemia, Hyper... |
ORPHA:134 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... |
OMIM:615673 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
| Werner Syndrome |
|
Lipodystrophy, Lipoatrophy, Insulin resistance, Decreased fertility, Secondary amenorrhea, Hypogo... |
ORPHA:902 |
| Glucagonoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Acanthocytosis, Depression, Normochromic anemia |
ORPHA:97280 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Spasticity, Gait disturbance |
ORPHA:2429 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypoglycemia |
OMIM:615160 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
| Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Antalgic gait, Hypercalcemia, Testicular neoplasm, Difficulty walking, Hypopho... |
ORPHA:249 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Tip-toe gait, Lethargy, Frequent... |
ORPHA:746 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Lethargy, Spasticity |
OMIM:614299 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... |
ORPHA:137898 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... |
OMIM:312080 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy, Fasciculations |
ORPHA:324581 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... |
ORPHA:95512 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokalemia, Stroke, ... |
ORPHA:173 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Isolated Complex I Deficiency |
|
Diabetes mellitus, Ataxia, Hypoglycemia, Lethargy, Failure to thrive |
ORPHA:2609 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Aggressive behavior, Tremor, Hypogonadism, Myoclonus, Dysphagia, Diabetes insip... |
ORPHA:97229 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ... |
OMIM:156200 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... |
ORPHA:90790 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Obesity, Compulsive behaviors, Spa... |
OMIM:618430 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy, Umbilical hernia, Hypothyroidism, Goiter |
OMIM:274400 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hepatic steatosis, Obesity |
OMIM:615996 |
| Bangstad Syndrome |
|
Small for gestational age, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Pr... |
OMIM:210740 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Bilateral cryptorchidism, Obesity, Male hypogonadism, Pancreatitis |
OMIM:619471 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Parkinsonism, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
| Wilson-Turner Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity |
ORPHA:3459 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia |
OMIM:177000 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
ORPHA:363741 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| H Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Hepatosplenomegaly, Azoospermia, Hypogona... |
ORPHA:168569 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Diarrhea, Hypoplasia of the t... |
OMIM:619313 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Ataxia, Anorexia, Spastic hemiparesis, Weight loss, Recurrent hypoglycem... |
ORPHA:20 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Jaundice, Failure to thrive, Hypoglycemia, Cirrhosis |
OMIM:617049 |
| Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Hypercalcemia, Prominent veins on trunk |
ORPHA:97289 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hypoglycemia |
OMIM:616483 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Pancreatitis |
OMIM:251000 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Cryptorchidism, Obesity, Congenital hypothyroidism |
OMIM:614613 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O... |
ORPHA:813 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
| 48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Tremor, Cryptorchidism, Obesity, Azoospermia,... |
ORPHA:96263 |
| Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, T2 hypointense tha... |
ORPHA:157846 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Gait ataxia, Myoc... |
OMIM:618321 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Inguinal hernia, Small for gestational age, Dysmenorrhea, Hypoglycemia, Cryptorchidism, Hypothyro... |
ORPHA:397590 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
| Vipoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Normochromic anemia, Hypokalemia |
ORPHA:97282 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Umbilical hernia, Hypoglycemia, Large for gestational age |
OMIM:616638 |
| Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... |
ORPHA:48818 |
| Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... |
ORPHA:206443 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impair... |
OMIM:617675 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
| Sneddon Syndrome |
|
Tremor, Arterial stenosis, Intracranial hemorrhage, Dementia, Mental deterioration, Memory impair... |
ORPHA:820 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... |
ORPHA:94093 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, D... |
OMIM:617710 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Limb joint contracture, Tremor, Inability to walk, ... |
OMIM:617013 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive |
ORPHA:28 |
| Laurence-Moon Syndrome |
|
Spastic paraplegia, Ataxia, Obesity |
OMIM:245800 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors |
ORPHA:444002 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Restlessness, Broad-based gait, Lower limb spasticity, Aggressive beha... |
ORPHA:251028 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Depression, Inappropriate be... |
OMIM:168605 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocki... |
OMIM:617302 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia |
ORPHA:231137 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Precocious pub... |
ORPHA:163681 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
| Pancreatic Agenesis 2 |
|
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... |
OMIM:615935 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:237300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Silver-Russell Syndrome 1 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... |
OMIM:180860 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apathy, A... |
OMIM:607485 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pancreatitis, Obesity, Pineal cyst... |
ORPHA:98908 |
| Somatostatinoma |
|
Diabetes mellitus, Hypercalcemia, Hypochromic microcytic anemia, Anorexia |
ORPHA:97283 |
| Werner Syndrome |
|
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:277700 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
| Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypomagnese... |
ORPHA:90362 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Flexion contracture of finger, Hypertriglyceridemia, Imp... |
OMIM:256040 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Hypersplenism, Microvesicula... |
ORPHA:275761 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Cerebral palsy, Hypoglycemia, Opisthotonus, Lethargy, Failure to thrive |
OMIM:210210 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia... |
OMIM:227810 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
| Senior-Loken Syndrome 9 |
|
Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis |
OMIM:616629 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypercalcemia, Cerebral hemorrhage |
ORPHA:276621 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Obesity, Primary amenorrhea, Increased serum testosterone level |
ORPHA:247768 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Precocious puberty, Tremor, Obesity, Gait imbalance, At... |
OMIM:619312 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia, Cerebral hemorrhage |
OMIM:171420 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia |
ORPHA:382 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia |
OMIM:231530 |
| Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Failure to thrive, Hypoglycemia |
OMIM:614702 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability |
ORPHA:3198 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Abnormality of pai... |
ORPHA:544254 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious b... |
OMIM:600430 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Failure to thrive, Neonatal hypoglycemia |
OMIM:619046 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... |
ORPHA:90301 |
| Chung-Jansen Syndrome |
|
Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, Attention deficit hyperactivity disorder |
OMIM:617991 |
| Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Premature ovarian insufficiency, Gait disturbance, Camptodactyly of finger |
ORPHA:2928 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig... |
OMIM:137440 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
| Trisomy X |
|
Tremor, Secondary amenorrhea, Depression, Attention deficit hyperactivity disorder, Tall stature |
ORPHA:3375 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia |
ORPHA:364 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Congenital diaphragmat... |
OMIM:600001 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Hypoketotic hypoglycemia |
OMIM:255120 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased testicular size |
OMIM:612469 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci... |
OMIM:605711 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
| Bachmann-Bupp Syndrome |
|
Cryptorchidism, Hypoglycemia, Large for gestational age |
OMIM:619075 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, V... |
ORPHA:470 |
| Weaver Syndrome |
|
Inguinal hernia, Cryptorchidism, Slurred speech, Poor fine motor coordination, Hydrocele testis, ... |
OMIM:277590 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decr... |
OMIM:618278 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic paraparesis |
ORPHA:329284 |
| Trisomy 18P |
|
Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder, Failure ... |
OMIM:619556 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Limb tremor, Clumsiness, Progressive gait ataxi... |
OMIM:105830 |
| Timothy Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Hypoglycemia, Hypocalcemia |
OMIM:601005 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase... |
ORPHA:845 |
| Down Syndrome |
|
Impaired pain sensation, Obesity, Decreased fertility, Gait disturbance, Type II diabetes mellitu... |
ORPHA:870 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue |
ORPHA:199276 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Hypoglycemia |
ORPHA:79096 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Ogden Syndrome |
|
Torticollis, Inguinal hernia, Cryptorchidism, Hypertonia, Shuffling gait, Lethargy |
ORPHA:276432 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Failure to thrive in infancy |
OMIM:619064 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia, Small for gestational age, Dorsocervical fat pad, Decreased body... |
ORPHA:391408 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hypoglycemia |
OMIM:614739 |
| Neuhauser Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism, Dysphagia |
OMIM:249310 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Inability... |
OMIM:128100 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Hypocalcemia, Cognitive impairment, Difficulty walking, Mental deterioration, Inappropria... |
OMIM:618476 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity |
ORPHA:289522 |
| Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia... |
OMIM:209950 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Arthrogryposis mu... |
ORPHA:254346 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia |
OMIM:609015 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive, Polyphagia |
ORPHA:95427 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
| Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Hypoglycemia, Decrease... |
OMIM:615577 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Head titubation, Rigidity, Gait ataxia, Choreo... |
OMIM:618877 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Hypogonadism, Type II diabetes mellitus |
ORPHA:79095 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Hypouricemia, Autoimmune thrombocytopenia, Ab... |
ORPHA:760 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
| Methanol Poisoning |
|
Hyperlipidemia, Diarrhea, Vomiting, Type II diabetes mellitus, Type I diabetes mellitus |
ORPHA:31825 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
| Eisenmenger Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Patent ductus arteriosus, H... |
ORPHA:97214 |
| Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Hemiplegia/hemiparesis, Cryptorchidism, Obesity... |
ORPHA:3157 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Pica, Obesity, Ataxia, Aggressive behavior |
OMIM:620191 |
| Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Abnormal cerebral vascular morphology, Tremor... |
ORPHA:904 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Obesity |
OMIM:615633 |
| Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... |
OMIM:260370 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Overweight, Obesity, Lethargy, Hypoketotic hypoglycemia |
ORPHA:26793 |
| Takayasu Arteritis |
|
Anorexia, Vasculitis, Arterial stenosis, Anemia, Ascending tubular aorta aneurysm, Vascular dilat... |
ORPHA:3287 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
| Multifocal Atrial Tachycardia |
|
Lethargy, Hypothyroidism, Cryptorchidism |
ORPHA:3282 |
| Wagr Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:893 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Overweight, Inability to walk, Tremor, Obesity, Agitation, Myoclon... |
OMIM:619229 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive b... |
ORPHA:85293 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Dysphagia, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Hypoglycemia, Cryptorchidism, Lethargy, Failure to thrive |
OMIM:607143 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Hypoglycemia, Neonatal hypoglycemia |
OMIM:212138 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity |
ORPHA:464288 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Obesity, Gait disturbance, Abno... |
ORPHA:2822 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Cryptorchidism, Recurrent hypoglycemia, Delayed puberty, Hypothyroidism |
OMIM:616817 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spastic t... |
ORPHA:352649 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Cyanosis, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Abnormal repetiti... |
OMIM:619092 |
| Trisomy 5P |
|
Obesity |
ORPHA:1742 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... |
ORPHA:206594 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Inguinal hernia, Failure to thrive, Cryptorchidism |
OMIM:614857 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ... |
OMIM:251880 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive, Impulsivity |
ORPHA:35706 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait... |
OMIM:614381 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Panniculiti... |
OMIM:617591 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... |
ORPHA:363618 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Hypoglycemia |
OMIM:229700 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Lethargy |
OMIM:201475 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat... |
OMIM:619574 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Hepatic bridging fibr... |
OMIM:300972 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Abnormal pyramidal sign, Lethargy, Failure to thrive |
OMIM:201470 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... |
OMIM:270450 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Obesity, Hypogonadism, Flexion contracture of toe |
ORPHA:3409 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Hemiparesis, Gait disturbance, Spastic paraparesis, Lethargy, Fail... |
ORPHA:395 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Hypercalcemia, Cerebral hemorrhage |
ORPHA:29072 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Flexion contracture, Dysmetria, Distal sensory impairment, Gait at... |
OMIM:616505 |
| Summitt Syndrome |
|
Camptodactyly of finger, Obesity, Tall stature |
ORPHA:3210 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Attention deficit hype... |
ORPHA:261197 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... |
ORPHA:1414 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Inability to walk, Splenomegaly, Hypokalemia, Hypocalcemia, Renal arter... |
OMIM:617913 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Pancrea... |
OMIM:267000 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
| Velocardiofacial Syndrome |
|
Aggressive behavior, Cryptorchidism, Hypocalcemia, Interrupted aortic arch, Pulmonary artery atre... |
OMIM:192430 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Intention tremor |
OMIM:619322 |
| 15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... |
ORPHA:94065 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Coarctation of aorta, Persis... |
OMIM:105650 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... |
ORPHA:99027 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Increased body weight |
ORPHA:890 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypoglycemia |
OMIM:245400 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Coronary artery atherosclerosis, Carotid artery ste... |
OMIM:210250 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
| Cornelia De Lange Syndrome 5 |
|
Cryptorchidism, Truncal obesity, Gastroesophageal reflux, Hypogonadism, Decreased testicular size |
OMIM:300882 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Adnp Syndrome |
|
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Truncal obesity,... |
ORPHA:404448 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Glutaric Acidemia I |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
OMIM:231670 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... |
OMIM:620185 |
| Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
| Medulloblastoma |
|
Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua... |
ORPHA:616 |
| Pheochromocytoma |
|
Renal artery stenosis, Hypercalcemia, Cerebral hemorrhage |
OMIM:171300 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Female hypogonadism, Dystonia, Tremor, Inability to walk, Slurred spee... |
OMIM:208900 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Small for gestational age, Intrahepatic cholestasis, Jaundice, Hepatic fibrosis, Fa... |
OMIM:617093 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
| Dend Syndrome |
|
Hyperglycemia, Vomiting, Elevated hemoglobin A1c |
ORPHA:79134 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94090 |
| Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... |
ORPHA:536532 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Umbilical hernia, Obesity |
ORPHA:171839 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:246450 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Delayed puberty, Hepatocellular ca... |
OMIM:232220 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... |
OMIM:618363 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
ORPHA:540 |
| Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Cryptorchidism, Elevated circulating parathyroid hormone level... |
ORPHA:439822 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign,... |
ORPHA:415 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:96182 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
| Carpenter Syndrome |
|
Cryptorchidism, Umbilical hernia, Obesity, Polysplenia |
ORPHA:65759 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Renal Hypoplasia, Bilateral |
|
Small for gestational age, Cryptorchidism, Glycosuria, Lethargy, Failure to thrive |
ORPHA:97362 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Bipolar affective disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Anemia |
OMIM:184850 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia |
ORPHA:348 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesity, Abnormal circulating creatin... |
ORPHA:98907 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... |
ORPHA:37042 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
| Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Diarrhea, Enter... |
OMIM:619802 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Poor fine motor coordination, Obesity |
ORPHA:254525 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Ataxia, Hypoglycemia, Babinski sign, Tongue fasciculations, Lethargy, Spasticity, Failu... |
OMIM:252010 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Impaired pain sensation, Cryptorchidism, Obesity,... |
ORPHA:412035 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Hypoglycemia |
OMIM:611126 |
| Megalencephaly |
|
Macroorchidism, Truncal obesity |
ORPHA:2477 |
| Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia... |
ORPHA:2828 |
| Meningococcal Meningitis |
|
Lethargy, Paresthesia, Anorexia |
ORPHA:33475 |
| Glut1 Deficiency Syndrome 2 |
|
Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612126 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Hyperthyroidism, Tremor, Dysmetria, Depression, Primary amenorrhea, ... |
ORPHA:502423 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Testicular neoplasm, Hypophosphatemia, Dysphagia, Polydipsia |
ORPHA:99880 |
| Williams-Beuren Syndrome |
|
Short attention span, Diabetes mellitus, Hypercalcemia, Retinal arteriolar tortuosity, Glucose in... |
OMIM:194050 |
| Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Small for gestational age, Premature ovarian insufficiency, ... |
ORPHA:125 |
| Cog8-Cdg |
|
Failure to thrive, Hypoglycemia |
ORPHA:95428 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Hypertonia, Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... |
OMIM:124000 |
| Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Paralysis, Insulin resistance, Diabetic ketoacidosis, Glucose in... |
ORPHA:358 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia |
OMIM:618253 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Testicular neoplasm, Hypophosphatemia, Dysphagia, Polydipsia |
ORPHA:143 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Splenomegaly, Hypomagnesemia, Dysphagia... |
ORPHA:699 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Limb dystonia |
OMIM:604377 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Oromandibular dys... |
OMIM:614298 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Fasting hypoglycemia, Delayed puberty, Panc... |
OMIM:232200 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size |
OMIM:610644 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Dysphagia, Choreoathetosis, Joint contracture, Dystonia, Spasticity |
OMIM:617664 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
| Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ... |
ORPHA:683 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
| Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... |
OMIM:615873 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype... |
ORPHA:91347 |
| Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritabi... |
ORPHA:449291 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Adrenal insuffi... |
OMIM:617053 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Ataxia, Confusion, Abnormal circulating fatty-acid concentra... |
ORPHA:139396 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Bardet-Biedl Syndrome |
|
Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis |
ORPHA:110 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Un... |
ORPHA:35069 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Tetraplegia, Pseu... |
OMIM:616586 |
| Orthostatic Hypotension 1 |
|
Retrograde ejaculation, Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphol... |
ORPHA:534 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention defici... |
OMIM:619680 |
| Alexander Disease |
|
Diabetes mellitus, Ataxia, Clonus, Precocious puberty, Tremor, Chorea, Abnormal pyramidal sign, T... |
ORPHA:58 |
| Carney Complex |
|
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryn... |
ORPHA:94089 |
| White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypo... |
OMIM:616364 |
| Scrub Typhus |
|
Tremor, Lethargy |
ORPHA:83317 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Inability to walk, Unsteady gait, Obesity, Compulsive behaviors, Spasticity |
OMIM:618443 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hypoglycemia, Elbow flexion contracture, Knee flexion contracture, Lethargy |
OMIM:608836 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Oromandibular dystonia, Compulsive behaviors,... |
ORPHA:2388 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic pa... |
OMIM:300894 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Overgrowth |
OMIM:605309 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Fa... |
ORPHA:25 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Obesity, Decreased testicular size, Cryptorchidism |
OMIM:619185 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Umbilical hernia, Inguinal hernia, Hypoglycemia, Elbow contracture |
OMIM:620275 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
ORPHA:289157 |
| Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impairment, Testicular at... |
ORPHA:276183 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoglycemia |
OMIM:618329 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Macroorchidism, Umbilical h... |
ORPHA:284180 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodu... |
OMIM:256810 |
| Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Gastroesophageal refl... |
OMIM:256300 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Ataxia, Transient ischemic attack, Carotid artery stenosis, Gait apraxia, Dysmetria, Lacunar stro... |
OMIM:600142 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Streak ovary, Obesity |
OMIM:194072 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Confusion, Abscess, Elevated circulating crea... |
ORPHA:36234 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity, Polysplenia |
OMIM:610543 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... |
ORPHA:289548 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
| Tatton-Brown-Rahman Syndrome |
|
Bipolar affective disorder, Aggressive behavior, Cryptorchidism, Obesity, Proportionate tall stat... |
ORPHA:404443 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ... |
OMIM:118450 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Obesity |
ORPHA:1035 |
| Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Hemiplegia/hemiparesis, Cryptorchidism, Polyphagia, Obes... |
ORPHA:1606 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia, Sh... |
OMIM:168600 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Small for gestational age, Limb joint contracture, Decreased resting energy expenditure, Inabilit... |
ORPHA:404454 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:275350 |
| Xq21 Microdeletion Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici... |
ORPHA:1435 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Pulmonary ly... |
OMIM:235255 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618089 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesity |
OMIM:614947 |
| Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Intrahepatic cholestasi... |
OMIM:614921 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Vomiting, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shu... |
OMIM:168601 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... |
OMIM:618060 |
| Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis |
OMIM:134400 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia |
ORPHA:3000 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis |
ORPHA:26791 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Lethargy, Tongue fasciculations, Myoclonus |
OMIM:614922 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,... |
OMIM:620330 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia,... |
OMIM:610217 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Diarrhea, Glycosuria, Hypokale... |
ORPHA:466677 |
| Ppoma |
|
Hypercalcemia, Anorexia |
ORPHA:97278 |
| Sotos Syndrome |
|
Hypercalcemia, Aggressive behavior, Tremor, Cryptorchidism, Patent ductus arteriosus, Decreased f... |
ORPHA:821 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mut... |
ORPHA:52503 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Impotence, Dementia, Gait disturbance, Disinhibition, Cogniti... |
ORPHA:43 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hypoglycemia, Poor fine motor coordination, Lethargy, Failure to thrive |
ORPHA:79282 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Di... |
ORPHA:572798 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Coarctation of aorta, Hypocalcemia, Pulmonary artery atresia, Trun... |
ORPHA:3426 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:99228 |
| Monosomy X |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:99226 |
| Turner Syndrome |
|
Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ... |
ORPHA:881 |
| Ethylene Glycol Poisoning |
|
Ataxia, Confusion, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia |
ORPHA:31826 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Generalized lipodystrophy, Insulin resistance, Delayed puberty |
ORPHA:90154 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia |
ORPHA:228305 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618835 |
| Adiposis Dolorosa |
|
Hypothyroidism, Obesity, Paresthesia, Depression |
ORPHA:36397 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618839 |
| Joubert Syndrome 8 |
|
Oculomotor apraxia, Hypertonia, Ataxia, Obesity |
OMIM:612291 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor,... |
OMIM:619475 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Episodic ataxia, Lethargy, Failure to thrive, Ataxia |
OMIM:311250 |
| Sotos Syndrome |
|
Tall stature, Cryptorchidism, Increased body weight, Glucose intolerance, Overgrowth, Prolonged n... |
OMIM:117550 |
| Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Hypocalcemia, Abno... |
ORPHA:2306 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myocl... |
OMIM:616271 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Anorexia, Type I diabetes mellitus, Lethargy, Failure to thrive |
OMIM:557000 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy |
OMIM:313200 |
| Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Tall stature, Hypoglycemia, Inguinal hernia... |
ORPHA:116 |
| Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia, Camptodactyly |
OMIM:301032 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Abnormal ... |
OMIM:606002 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia |
ORPHA:391428 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Appendicular spasticity, Aggressive behavior, Obesity, Overgrowth, Apraxia, Oculomotor apraxia |
OMIM:620250 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic constipation, Hyperuricemia, Obesity |
ORPHA:261222 |
| Grfoma |
|
Hypercalcemia, Anorexia |
ORPHA:97261 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha... |
ORPHA:466650 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Renal artery aneurysm, Ataxia, Elevated circulating C-reactive protein concentratio... |
OMIM:615688 |
| Citrullinemia, Classic |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:215700 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Abnormality of extrapyramidal motor function, Apathy |
ORPHA:178509 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Camptodactyly of toe, Decreased testicular size |
ORPHA:127 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Hypo... |
ORPHA:411634 |
| Tenorio Syndrome |
|
Cerebral palsy, Hypoglycemia, Clumsiness, Gait disturbance, Hypoinsulinemia |
OMIM:616260 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis, Failure to thrive |
OMIM:617156 |
| Zollinger-Ellison Syndrome |
|
Increased glucagon level, Hypercalcemia |
ORPHA:913 |
| Encephalitis Lethargica |
|
Tremor, Lethargy, Parkinsonism |
ORPHA:83600 |
| D-Glyceric Aciduria |
|
Failure to thrive, Hypoglycemia |
OMIM:220120 |
| Familial Hypoaldosteronism |
|
Adrenal insufficiency, Increased circulating renin level, Lethargy, Failure to thrive, Decreased ... |
ORPHA:427 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Spastic paraplegia, Obesity, Lower limb hypertonia, Tip-toe gait, Spastic gait, Limb hypertonia |
OMIM:617296 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,... |
OMIM:615418 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Cryptorchidism, Pancreatic hyperplasia, Adr... |
OMIM:130650 |
| Wilson Disease |
|
Aggressive behavior, Abnormality of the menstrual cycle, Hypersexuality, Increased body weight, W... |
ORPHA:905 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Hyperactivity, Obesity, Dysphagia, Poor fine motor coordination, Decreased body w... |
ORPHA:589821 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Hypoglycemia |
OMIM:615751 |
| Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... |
OMIM:613280 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Oncogenic Osteomalacia |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Cryptorchidism, Athetosis, Camptodactyly, Lethargy, Failure to thrive |
OMIM:614866 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Umbilical hernia, Ch... |
OMIM:301066 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatosple... |
ORPHA:1655 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
| Methylmalonic Aciduria, Cbla Type |
|
Tremor, Lethargy, Failure to thrive |
OMIM:251100 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Gastroesophageal reflux, Constipa... |
ORPHA:444077 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability |
ORPHA:428 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Failure to thrive, Hepatic steatosis |
ORPHA:99901 |
| Hydranencephaly |
|
Thalamic edema, Spastic diplegia, Opisthotonus, Lethargy, Dysgenesis of the thalamus, Atrophic pi... |
ORPHA:2177 |
| Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Ataxia, Abnormal hypothalamus morphology, Hemiparesis, Abnormality of the adrenal g... |
ORPHA:68 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Poor coordination, Hypogonadism, Obesity |
OMIM:615994 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Joint contracture, Failure to thrive, Hypothyroidism, Hypoglycemia |
OMIM:618005 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Hypoglycemia, Hemiplegia, Lethargy, Failure to thrive |
ORPHA:137675 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Impotence, Positiv... |
OMIM:105210 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Biotinidase Deficiency |
|
Lethargy, Ataxia |
OMIM:253260 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Lethargy, Failure to thrive, Small for gestational age, Incoordination |
OMIM:277380 |
| Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Failure to thrive, Hypoglycemia, Neonatal hypoglycemia |
OMIM:619055 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Camptodactyly |
OMIM:301039 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyperthyroidism, Hypogonadotropic hypogon... |
ORPHA:3455 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Jaundice, Failure to thrive |
OMIM:608779 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... |
OMIM:276700 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Myoclonus, Dysphagia, Loss of ambulation, Right h... |
OMIM:607426 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Neonatal hypoglycemia, Congenital foot contractures |
ORPHA:565624 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia, Supernumerary nipple |
ORPHA:457279 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Decreased fertility, Obesity, Breast aplasia, Hypoplasti... |
ORPHA:3138 |
| Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity, Aggressive behavior |
OMIM:619056 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:233600 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Lethargy, Failure to thrive, Abnormality of extrapyramidal motor function |
OMIM:277400 |
| Carpenter Syndrome 1 |
|
Omphalocele, Precocious puberty, Cryptorchidism, Obesity, Polysplenia, Camptodactyly, Umbilical h... |
OMIM:201000 |
| Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Unilateral cryptorchidism, Maturi... |
ORPHA:96149 |
| Hyperlysinemia |
|
Short attention span, Hyperactivity, Tremor, Hyperammonemia, Dysmetria, Opisthotonus, Pulmonary a... |
ORPHA:2203 |
| Argininosuccinic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:207900 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Anemia, Strok... |
ORPHA:2637 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Hereditary Fructose Intolerance |
|
Lethargy, Reactive hypoglycemia |
ORPHA:469 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Increased hepatocellular lipid droplets... |
OMIM:220111 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Anemia, Intracranial hemorrhage, Hypocalcemia, Hyperbil... |
ORPHA:163979 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... |
OMIM:264090 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyr... |
ORPHA:109 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
| Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia |
ORPHA:66634 |
| Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Hypercalcemia, Increased T cell count, Anemia, Leukopenia, Thromb... |
ORPHA:797 |
| Kleefstra Syndrome 1 |
|
Aggressive behavior, Cryptorchidism, Obesity, Apathy, Compulsive behaviors, Abnormal repetitive m... |
OMIM:610253 |
| Trichinellosis |
|
Babinski sign, Hemiparesis, Apathy, Dysphagia, Hemiplegia, Lethargy |
ORPHA:863 |
| Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Progressive psychomotor deterioration, Hepatosplenomegaly, ... |
OMIM:268800 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Waddling gait, Obesity |
ORPHA:174 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Dengue Fever |
|
Lethargy |
ORPHA:99828 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:544482 |
| Biotinidase Deficiency |
|
Lethargy, Ataxia, Spastic paraparesis |
ORPHA:79241 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia |
ORPHA:445038 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Flexion contracture, Hypoglycemia, Decreased response to growth ho... |
OMIM:616007 |
| Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus, Obesity |
ORPHA:563 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Femoral hernia, Cryptorchidism, Obesity, Depression, Apathy, Failure to thrive, ... |
ORPHA:96147 |
| Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Chronic pancreatitis, Delayed puberty, Hepa... |
OMIM:232240 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
| Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature |
ORPHA:2563 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... |
ORPHA:91500 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... |
ORPHA:1772 |
| Desbuquois Dysplasia 1 |
|
Waddling gait, Obesity |
OMIM:251450 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... |
OMIM:309000 |
| Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Ataxia |
OMIM:616881 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Postural tremor, Ataxia, Limb joint contracture, Babinski sign, Flexion contracture, Truncal obes... |
OMIM:301072 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoglycemia, Dilatation of the cerebral artery, Hypoalbuminemia, Hypocalcemia, Unc... |
OMIM:613658 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity |
OMIM:618493 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture |
ORPHA:90153 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia |
OMIM:620300 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Necrotizing en... |
OMIM:619573 |
| Deeah Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:619004 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
ORPHA:158048 |
| Cohen Syndrome |
|
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... |
OMIM:216550 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cryptorchidism, Hypoglycemia |
OMIM:620224 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response, Irritability, Short attention span |
OMIM:617864 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture, Generalized lip... |
OMIM:619127 |
| Shigellosis |
|
Hypoglycemia, Failure to thrive in infancy, Peritonitis, Cholestasis, Splenic abscess |
ORPHA:810 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Umbilical hernia, Hypoglycemia |
OMIM:614501 |
| Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Hypertonia |
OMIM:253270 |
| Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait |
OMIM:207800 |
| Ebola Hemorrhagic Fever |
|
Lethargy, Dysphagia |
ORPHA:319218 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
| Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
| Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... |
ORPHA:646 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Supernumerary nipple |
ORPHA:3224 |
| Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Supernumerary ... |
ORPHA:373 |
| Sanjad-Sakati Syndrome |
|
Cryptorchidism, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Chorea, ... |
ORPHA:2131 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Obesity, Primary amenorrhea |
ORPHA:319675 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity... |
ORPHA:369950 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidem... |
ORPHA:565612 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Cryptorchidism, Obesity, Congenital... |
OMIM:607872 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| 2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Obesity, Supernumerary nipple |
ORPHA:1001 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... |
OMIM:208000 |
| Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
| Methylmalonic Aciduria, Cblb Type |
|
Lethargy, Failure to thrive |
OMIM:251110 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Dysphagia, Focal dystonia, Bradykinesia, Clumsiness, Parkinsoni... |
ORPHA:199351 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Limb hypertonia |
OMIM:620306 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hemiparesis, Lethargy, Failure to thrive |
OMIM:620233 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Lethargy, Failure to thrive |
ORPHA:79284 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
| White-Sutton Syndrome |
|
Ventral hernia, Hyperactivity, Incoordination, Inguinal hernia, Congenital diaphragmatic hernia, ... |
ORPHA:468678 |
| Digeorge Syndrome |
|
Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating p... |
OMIM:188400 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... |
ORPHA:91387 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
| Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failure to thrive, Hepatic steatosis |
OMIM:229600 |
| Pmm2-Cdg |
|
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... |
ORPHA:79318 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Splenomegaly, Pulmonary artery stenosis, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
| Grange Syndrome |
|
Patent ductus arteriosus, Arterial stenosis |
ORPHA:79094 |
| Holoprosencephaly |
|
Omphalocele, Diabetes mellitus, Diabetes insipidus, Hypoglycemia, Failure to thrive in infancy, C... |
ORPHA:2162 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Spastic tetraparesis, Decreased serum leptin, Flexion contractur... |
OMIM:614098 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Atten... |
ORPHA:8 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... |
ORPHA:447753 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... |
ORPHA:167 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
| 8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Obesity, Congenital diaphragmatic hernia, Weight loss |
ORPHA:251071 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia |
OMIM:610768 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Broad-based gait, Impulsivity, Ascending aorta hypoplasia, Cryptorchidism, Hypo... |
OMIM:619503 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Abnormality of thyroid physiology, Hyperlipidemia, Failure to thrive, ... |
ORPHA:1830 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Premature pubarche, Hypothyroidism, Premature thelarche, Hypoglycemia |
OMIM:616878 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Cryptorchidism, Recurrent hypoglycemia, Abnormal ad... |
ORPHA:79324 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Hypoglycemia, Flexion contracture, Failure to thrive, Hepatic steatosis |
ORPHA:17 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia |
OMIM:619355 |
| 22Q11.2 Deletion Syndrome |
|
Retinal arteriolar tortuosity, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Abnormal a... |
ORPHA:567 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... |
OMIM:619534 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Bili... |
ORPHA:567983 |
| African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Abnormal central motor function, Paralysis, Abn... |
ORPHA:3385 |
| Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive, Cyanosis |
ORPHA:1329 |
| Cartilage-Hair Hypoplasia |
|
Cognitive impairment, Hypocalcemia, Anemia, Neutropenia |
ORPHA:175 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... |
OMIM:615356 |
| Kleefstra Syndrome |
|
Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Hernia, Abnormal repetitiv... |
ORPHA:261494 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
| Marburg Hemorrhagic Fever |
|
Hypoglycemia, Anorexia, Aggressive behavior, Dysesthesia, Orchitis, Lethargy |
ORPHA:99826 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... |
OMIM:601104 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus |
OMIM:619269 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Nausea, Increased circulating ferritin concentration, Splenomegaly, ... |
OMIM:222700 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Extrapyramidal muscular rigidity, Multiple joint contractures, Lipoatrophy, Tr... |
ORPHA:51 |
| Menkes Disease |
|
Inguinal hernia, Hypoglycemia, Atypical scarring of skin, Hernia, Prolonged neonatal jaundice, Um... |
ORPHA:565 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence |
OMIM:146500 |
| Leigh Syndrome |
|
Multiple joint contractures, Failure to thrive, Hypoglycemia |
ORPHA:506 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia |
ORPHA:35173 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Hypogonadism |
OMIM:614231 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... |
ORPHA:85450 |
| Cystinosis, Nephropathic |
|
Male infertility, Hyponatremia, Diabetes mellitus, Progressive neurologic deterioration, Oral-pha... |
OMIM:219800 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
| Cohen Syndrome |
|
Cryptorchidism, Failure to thrive in infancy, Obesity, Delayed puberty |
ORPHA:193 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Hypertonia,... |
OMIM:616078 |
| Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
| Craniofacioskeletal Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Interrupted aortic arch |
OMIM:300712 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia |
OMIM:272800 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus |
OMIM:210720 |
| Oculodentodigital Dysplasia |
|
Umbilical hernia, Camptodactyly of finger, Hypoglycemia, Abnormal dental enamel morphology |
ORPHA:2710 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
| Hennekam Syndrome |
|
Splenomegaly, Pulmonary lymphangiectasia, Arteriovenous malformation, Hypocalcemia, Lymphopenia |
ORPHA:2136 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... |
ORPHA:512 |
| Parkinson Disease 21 |
|
Bradykinesia, Parkinsonism, Rigidity, Tremor |
OMIM:616361 |
| Achondroplasia |
|
Hypoxemia, Obesity |
ORPHA:15 |
| Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis |
OMIM:185500 |
| Primrose Syndrome |
|
Restlessness, Hip contracture, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Aggress... |
OMIM:259050 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Anomalous pulmonary venous return, Persistent lef... |
ORPHA:244 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Transposition of the great arteries, Elevated circulating creatine ... |
OMIM:253800 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Kabuki Syndrome 2 |
|
Neonatal hypoglycemia, Decreased body weight |
OMIM:300867 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Hyperlipidemia, Menorrhagia, Hyperuricemia |
ORPHA:35909 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Cryptorchidism, Obesity, Difficulty walking, Abnormal repetitive mannerisms |
OMIM:618653 |
| Xylt1-Cdg |
|
Hepatomegaly, Truncal obesity |
ORPHA:370930 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Decreased circulating cortisol level, Cryptorchidism, Decreased circ... |
OMIM:620305 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron, Inability to walk... |
ORPHA:438213 |
| Chops Syndrome |
|
Gastroparesis, Splenomegaly, Cryptorchidism, Obesity, Constipation, Gastroesophageal reflux |
OMIM:616368 |
| Mucopolysaccharidosis Type 2 |
|
Short attention span, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, I... |
ORPHA:580 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin |
OMIM:614008 |
| Posterior Urethral Valve |
|
Lethargy |
ORPHA:93110 |
| Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
| Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Precocious puberty, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, D... |
ORPHA:1934 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Maturity-onset diabetes of the young, Tremor, Hy... |
ORPHA:1578 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
| Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy, Glycosuria, Impotence, Dysphagia |
ORPHA:447 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac... |
ORPHA:466950 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Large for gestational age, Disproportionate tall stature, Overgrowth, Slender build, Neonatal hyp... |
ORPHA:457359 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hypertonia, Abnormality of the diencephalon, Ataxia |
ORPHA:2720 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
| Arterial Tortuosity Syndrome |
|
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... |
ORPHA:3342 |
| Neurofibromatosis Type 1 |
|
Ataxia, Cryptorchidism, Arterial stenosis, Chronic myelogenous leukemia, Attention deficit hypera... |
ORPHA:636 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Poor coordination, Obesity, Self-injurious behavior, Attention deficit hyper... |
ORPHA:466943 |
| Charge Syndrome |
|
Overriding aorta, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Tetral... |
OMIM:214800 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Cryptorchidism, Exaggerated startle response, Patent ductus arteriosus |
OMIM:620327 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis, Dec... |
OMIM:619321 |
| 17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Secondary am... |
ORPHA:529962 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity |
ORPHA:251038 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
| Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Precocious puberty, Cryptorchidism, Obesity, Failure to thrive |
ORPHA:2322 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment, Dysphagia |
OMIM:617527 |
| 6Q Terminal Deletion Syndrome |
|
Failure to thrive, Obesity, Dysmetria, Gait ataxia |
ORPHA:75857 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Hypocalcemic seizures |
ORPHA:93325 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... |
OMIM:227650 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Abnormality of the diencephalon, Camptodactyly of finger |
ORPHA:2570 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Myhre Syndrome |
|
Small for gestational age, Ataxia, Cryptorchidism, Obesity, Camptodactyly |
OMIM:139210 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Exaggerated startle response, Testicular dysgenesis |
OMIM:608800 |
| Acute Liver Failure |
|
Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Adrenal insufficien... |
ORPHA:90062 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch... |
ORPHA:71493 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
| Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
| Witteveen-Kolk Syndrome |
|
Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s... |
OMIM:613406 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss, Hypoglycemia, Glycosuria |
ORPHA:3337 |
| Leukocyte Adhesion Deficiency |
|
Vaginitis, Peritonitis, Recurrent aphthous stomatitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
| Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperlipidemia, Peripher... |
ORPHA:391665 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis |
OMIM:126320 |
| White-Kernohan Syndrome |
|
Gastroesophageal reflux, Hypothyroidism, Obesity |
OMIM:619426 |
| Ulnar-Mammary Syndrome |
|
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... |
OMIM:181450 |
| Pseudoxanthoma Elasticum |
|
Vascular dilatation, Arterial stenosis, Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:758 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Diarrhea, Increased blood urea nit... |
OMIM:235400 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Incoordination, Small for gestational age, Impulsivity, Premature thelarche, Bilat... |
OMIM:180849 |
| Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
| Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea, Obesity |
OMIM:620072 |
| Pineoblastoma |
|
Lethargy, Paralysis |
ORPHA:251909 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Failure to thrive, Gastroesophageal reflux, Pseudohypoparathyroidism, Obesity |
OMIM:617157 |
| Costello Syndrome |
|
Overgrowth, Failure to thrive, Hypoglycemia, Achilles tendon contracture |
OMIM:218040 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cryptorchidism, Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
| Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Bruxism, Umbilical hernia |
ORPHA:48652 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353281 |
| Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Increased HDL cholesterol concentration, Obesity, Elevated c... |
ORPHA:70591 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
| Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
| Norrie Disease |
|
Diabetes mellitus, Clonus, Cachexia, Abnormality of the diencephalon, Cryptorchidism, Self-injuri... |
ORPHA:649 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity, Vomiting, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentra... |
ORPHA:66529 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splen... |
OMIM:243800 |
| Carpenter Syndrome 2 |
|
Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Obesity, Knee flexion contracture... |
OMIM:614976 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... |
ORPHA:90797 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353277 |
| Fabry Disease |
|
Hyperlipidemia, Delayed puberty, Achalasia, Abnormal circulating lipid concentration, Diabetes in... |
ORPHA:324 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
| Cutis Marmorata Telangiectatica Congenita |
|
Arteriovenous malformation, Patent ductus arteriosus, Arterial stenosis, Cognitive impairment |
ORPHA:1556 |
| Holoprosencephaly 1 |
|
Hypoglycemia, Diabetes insipidus, Adrenal hypoplasia |
OMIM:236100 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Cryptorchidism, Obesity, Hypogonadism, Vomiting, Gastroesophageal reflux, Constipation, Decreased... |
OMIM:309580 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Arteriovenous f... |
ORPHA:286 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Peripheral arterial stenosis |
OMIM:259900 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Short attention span, Splenomegaly, Peripheral arterial stenosis, Hepatosplenomegaly, Abnormal ao... |
ORPHA:217093 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Primary amenorrhea, Truncal obesity, Gastroesoph... |
ORPHA:199 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repe... |
OMIM:612474 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Splenomegaly, Peripheral arterial stenosis, Hepatosplenomegaly, Abnormal aortic morphology, Cogni... |
ORPHA:217085 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Chordee... |
OMIM:619522 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis |
ORPHA:228116 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess |
ORPHA:289176 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Grange Syndrome |
|
Coronary artery stenosis, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchid... |
OMIM:163950 |
| Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Cryptorchidism,... |
OMIM:601803 |
